Canonical Allele Identifier: CA767408136

Gene: GCKR

Linked Data

• dbSNP Id: rs1366634238
• gnomAD v3: 2-27519766-C-G
• gnomAD v4: 2-27519766-C-G
• MyVariant Identifiers: chr2:g.27742633C>G (hg19) ; chr2:g.27519766C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27519766C>G , CM000664.2:g.27519766C>G	GRCh38
NC_000002.11:g.27742633C>G , CM000664.1:g.27742633C>G	GRCh37
NC_000002.10:g.27596137C>G	NCBI36
NG_028024.1:g.27928C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264717.7:c.1572+829C>G MANE Select	ENSP00000264717.2:n.1572+829C>G
ENST00000264717.6:c.1572+829C>G	ENSP00000264717.2:n.1572+829C>G
NM_001486.3:c.1572+829C>G	NP_001477.2:n.1572+829C>G
XM_011532761.1:c.1419+829C>G	XP_011531063.1:n.1419+829C>G
XM_011532762.1:c.1002+829C>G	XP_011531064.1:n.1002+829C>G
XM_017003796.1:c.1002+829C>G	XP_016859285.1:n.1002+829C>G
XM_017003797.1:c.1002+829C>G	XP_016859286.1:n.1002+829C>G
NM_001486.4:c.1572+829C>G MANE Select	NP_001477.2:n.1572+829C>G